The book presents a wide range of knowledge in human genetics and molecular biology in medicine. One of the chapters authored by our team leader Tomasz Gambin covers state-of-the-art introduction to bioinformatics analysis of data from Next Generation Sequencing. You will find there a lot of useful information about data formats, SNV (Single Nucleotide Variant), CNV (Copy Number Variation) calling pipelines as well as their interpretation methods. It’s definitely a must-read book for everyone interested in clinical applications of NGS technologies!
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